Advancing research into Schaaf-Yang syndrome, a rare disease that causes intellectual disability and congenital malformations

by Universitat de Barcelona

Mutations in the MAGEL2 gene, which cause Schaaf-Yan syndrome (SYS) —an ultra-rare disease that affects neuronal and cognitive development— generate truncated, non-functional proteins that tend to...

Read more
Subscribe to Directory
Write an Article

Recent News

Exposure to Heat and Cold During Pregnan...

The research team observed changes in head circumf...

Using mobile RNAs to improve Nitrogen a...

AtCDF3 gene induced greater production of sugars a...

El diagnóstico genético neonatal mejor...

Un estudio con datos de los últimos 35 años, ind...

Highlight

Eosinófilos. ¿Qué significa tener val...

by Labo'Life

​En nuestro post hablamos sobre este interesante tipo de célula del...

European experts to discuss the new EU-f...

by IMIM - Institut Hospital del Mar d'Investigacions Mèdiques

The SAGITTARIUS clinical study a new EU-funded clinical trial leveragi...

Photos Stream